Complexities in health 8
Track 23
| Saturday, October 28, 2023 |
| 2:00 PM - 3:15 PM |
| Meeting Room E3.5 |
Speaker
Dr Irina Halbostad
Family Doctor
Namsos helsestasjon
Experience of diagnosing rare disease in general practice. An example of Factor X-deficit.
2:00 PM - 3:15 PMSummary
For some conditions, patients describe years of exhausting “diagnostic odyssey”. At the same time, general practitioners (GPs) face challenges navigating high volumes of patients with complex conditions and multiple co-morbidities. Reflecting on the process and learnings form diagnosing rare diseases (RDs) in general practice can help to navigate these challenges. There are more than 7000 RDs worldwide. The true prevalence of RDs is unknown and an estimated 6% of the European population is affected by a rare disease. Many of those are associated with severe chronic disabilities, but many patients with milder findings presenting at later ages may still be un-or misdiagnosed. In this case a female patient in her 40s was referred to hospital in mid-2016 with acute dizziness and minimal fascial asymmetry. On initial laboratory investigations, the only abnormality was a slightly increased PT-INR 1.3 (normal 0-1.1).
No further investigations were advised by the haematology specialist at the time, but the patient inquired about retaking some test to focus on bleeding disorders in spring of 2017. Additional tests showed a low P-coagulation factor X-activity- 28 IU/dl (N 77-150) and a diagnosis of heterozygote coagulation factor X-deficit in mild form was established by May 2017. The patient regarded her symptoms (menorrhagia, iron deficit, spontaneous gum bleeding and prolonged bleeding from small injuries) as normal and managed these throughout life. From patients’ perspective the value of the correct diagnosis included not only the explanation of her symptoms but also the possibility for medical treatment. Diagnosing of RDs in general practice is challenging and require sharp attention to the mild and vague symptoms, following up the abnormal results that lack explanation and general awareness for RDs.
Keywords: congenital factor X-deficit, general practice, rare diseases, primary care, patient experience
No further investigations were advised by the haematology specialist at the time, but the patient inquired about retaking some test to focus on bleeding disorders in spring of 2017. Additional tests showed a low P-coagulation factor X-activity- 28 IU/dl (N 77-150) and a diagnosis of heterozygote coagulation factor X-deficit in mild form was established by May 2017. The patient regarded her symptoms (menorrhagia, iron deficit, spontaneous gum bleeding and prolonged bleeding from small injuries) as normal and managed these throughout life. From patients’ perspective the value of the correct diagnosis included not only the explanation of her symptoms but also the possibility for medical treatment. Diagnosing of RDs in general practice is challenging and require sharp attention to the mild and vague symptoms, following up the abnormal results that lack explanation and general awareness for RDs.
Keywords: congenital factor X-deficit, general practice, rare diseases, primary care, patient experience
Takeaways
1. To get general information about rare diseases
2. To learn about Factor X-deficit
3. To get interest in thema of rare diseases
2. To learn about Factor X-deficit
3. To get interest in thema of rare diseases
Biography
Irina Halbostad, b. 1974 august 13 in Norilsk, Russia. Graduated Medical University St.Petersburg i 1998. Worked 3 years at the Botkin's Hospital for Infectious Diseases. In 2001 moved to Norway and approved licence as G.P. (general practice) doctor in 2005. Spesialist in G.P. since 2012. Experience as a G.P. " with a list" in 17 years. Now is working in Child Public Health care center in Namsos municipality.
